• Journal of Korean Neurosurgical Society
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• 제42권4호
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• pp.326-330
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• 2007

Objective : Stroke is the most prevalent disease involving the central nervous system. Since medical modalities are sometimes ineffective for the acute edema following massive infarction, surgical decompression may be an effective option when medical treatments fail. The present study was undertaken to assess the outcome and prognostic factors of decompressive surgery in life threatening acute, severe, brain infarction. Methods : We retrospectively analyzed twenty-six patients (17 males and 9 females; average age, 49.7yrs) who underwent decompressive surgery for severe cerebral or cerebellar infarction from January 2003 to December 2006. Surgical indication was based on the clinical signs such as neurological deterioration, pupillary reflex, and radiological findings. Clinical outcome was assessed by Glasgow Outcome Scale (GOS). Results : Of the 26 patients, 5 (19.2%) showed good recovery, 5 (19.2%) showed moderate disability, 2 (7.7%) severe disability, 6 (23.1%) persistent experienced vegetative state, and 8 (30.8%) death. In this study, the surgical decompression improved outcome for cerebellar infarction, but decompressive surgery did not show a good result for MCA infarction (30.8% overall mortality vs 100% mortality). The dominant-hemisphere infarcts showed worse prognosis, compared with nondominant-hemisphere infarcts (54.5% vs 70%). Poor prognostic factors were diabetes mellitus, dominant-hemisphere infarcts and low preoperative Glasgow Coma Scale (GCS) score. Conclusion : The patients who exhibit clinical deterioration despite aggressive medical management following severe cerebral infarction should be considered for decompressive surgery. For better outcome, prompt surgical treatment is mandatory. We recommend that patients with severe cerebral infarction should be referred to neurosurgical department primarily in emergency setting or as early as possible for such prompt surgical treatment.

• Journal of Korean Neurosurgical Society
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• 제30권3호
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• pp.278-283
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• 2001

Objective : Massive cerebral infarction could be accompanied by severe brain swelling and death secondary to transtentorial herniation. Approximately 10% to 15% of middle cerebral artery infarctions are associated with this phenomenon. However, the effectiveness and timing of decompressive surgery are still controversial. In this study, we present our results on the effect of decompressive craniectomy in life threatening cerebral infarction. Method : We retrospectively analyzed 15 patients who underwent decompressive craniectomy for massive cerebral infarction from January 1997 to April 1999. Surgical indication was based on the clinical signs such as neurological deterioration, pupillary reflex, and radiological findings. Clinical outcome was assessed by Glasgow Outcome Scale (GOS). Results : All 15 patients(five men, ten women ; mean age, 52.3 years ; right 11, left 4) were treated with wide craniectomy and duroplasty. The average time interval between onset of symptom and surgical decompression was 2.9 days. Clinical signs of uncal herniation(anisocoria, or fixed and dilated pupils) were presented in 13 of 15 patients. Mean Glasgow coma scale(GCS) was 12.4 points on admission, 8.1 points on preoperative state and 11.8 points postoperatively. Overall outcomes were favorable in 5 cases(Glasgow outcome scale : GOS I, II), unfavorable in 6 cases(Glasgow outcome scale : GOS III, IV) and dead in 4 cases. Conclusion : Early decompressive craniectomy before brain stem compression is considered as an effective lifesaving procedure for massive cerebral infarction unresponsive to aggressive medical therapy.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.22-26
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• 2022

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

• Journal of Korean Neurosurgical Society
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• 제42권2호
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• pp.77-82
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• 2007

Objective : The authors tried to reveal some unique features of lipomeningomyelocele (LMMC), including clinical presentation, factors precipitating onset of symptoms, pathologic entities of LMMC associated with tethered cord syndrome, and surgical outcome in LMMC patients. Methods : Seventy-five patients with LMMC were enrolled in this study. Neuro-imaging and intraoperative findings allowed classification of LMMC into three Types. The patients were divided into two groups by age : A (51 patients), from birth to 3 years, and B (24 patients), from 3 to 24 years. For prevention of retethering of the cord, a mega-dural sac rebuilding procedure was performed in 15 patients. Results : During a mean postoperative follow-up period of 4 years, the surgical outcome was satisfactory in terms of improved pain and motor weakness, but disappointing with reference to the resolution of bowel and bladder dysfunction. Among these 75 patients with LMMC, preoperative deficits were improved after surgery in 29 (39%), remained stable in 28 (37%), changed slightly in 13 (17%), and worsened in 5 (7%). Patients in group A achieved better outcomes than those in group B. Depending on the type of lesion, patients with types I and II LMMC have better outcomes than those with type III LMMC. Finally, retethering of the cord with neurological deterioration occurred in 4 (5.3%) of the 75 patients, but no retethering was found in the 15 patients who were recently treated with a mega-dural sac rebuilding procedure. Conclusion : Our data continue to support the opinion that early diagnosis and optimal surgery are still essential for the treatment of patients with LMMC, since there is a high likelihood of residual neurological functions that can be preserved. Based on our surgical experience of untethering and decompression of lipomas, a mega-dural sac repair is useful to prevent retethering of the cord.

• Journal of Korean Neurosurgical Society
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• 제29권10호
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• pp.1365-1371
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• 2000

악성 임파종중에서 Non-Hodgkin 임파종이 척수 압박 증상을 일으키는 경우는 0.1~10.2%정도로 알려져 있으며, 이러한 척수 압박 증세가 임파종의 초기 증상으로 나타나는 경우는 특히 드문 것으로 알려져 있다. 척수 압박은 척추관내에 국한되어 있는 임파종에 의하거나 주변 임파절이나 척추로부터 전이된 경우에 발생하며, 다른 장기로의 침범 소견이 없는 원발성 척수 경막외 임파종의 경우, 조기에 외과적 감압이 이루어지고 보조요법으로 항암 치료 및 방사선 치료가 행해진다면 그 경과가 비교적 양호한 것으로 알려져 있다. 저자들은 요통을 전구 증상으로, 급성 하반신 부전마비 및 배뇨 장애 소견을 보여 본원에 내원후, 응급 감압술 및 조직병리검사 결과 B-세포성 Non-Hodgkin 임파종으로 확인된 두 명의 여자환자를 경험하였다. 수술후 두 환자의 증세는 모두 회복되었으며, 항암 치료 및 방사선 치료후 현재까지 추적 조사중이다. 이에 저자들은 초기 증상으로 경막외 척수 압박을 보인 원발성 Non-Hodgkin 임파종에 관해 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1342-1345
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• 2008

피질하 낭종을 동반한 거대뇌성 백질뇌병증은 뇌백질의 희귀성 질환으로 1990년대에 처음 보고되었다. 이는 자기공명 영상(MRI)에서 미만성의 백질 이상 및 다양한 정도로 발견되는 피질하 낭종과 함께 뇌의 종창을 보이는 것이 전형적이며, 이 병변은 특징적으로 대뇌 측두엽의 전반부를 침범하고, 심부의 뇌백질, 대뇌 기저핵, 시상과 소뇌는 상대적으로 보존되는 경향을 보인다. 피질하 낭종을 동반한 거대뇌성 백질뇌병증이 있는 환아는 큰 머리와 함께 운동 장애, 실조증, 강직과 인지 기능 장애 등의 신경학적 결함을 보인다. 저자들은 큰 머리와 함께 경련, 발달 지연, 뇌 MRI 의 T2 강조영상에서 양측성으로 전두, 측두, 두정엽에서 고신호강도의 백질 병변을 보이는 피질하 낭종을 동반한 거대뇌성 백질뇌병증에 합당한 소견을 보이는 20개월의 남자 환아를 경험하였기에 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제64권3호
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• pp.437-446
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• 2021

Objective : To investigate the radiographic characteristics of the uppermost instrumented vertebrae (UIV) and UIV+1 compression fractures that are predictive of revision surgery following long-segment spinal fixation. Methods : A total 27 patients who presented newly developed compression fracture at UIV, UIV+1 after long segment spinal fixation (minimum 5 vertebral bodies, lowest instrumented vertebra of L5 or distal) were reviewed retrospectively. Patients were divided into two groups according to following management : revisional surgery (group A, n=13) and conservative care (group B, n=14). Pre- and postoperative images, and images taken shortly before and after the occurrence of fracture were evaluated for radiologic characteristics Results : Despite similar degrees of surgical correction of deformity, the fate of the two groups with proximal junctional compression fractures differed. Immediately after the fracture, the decrement of adjacent disc height in group A (32.3±7.6 mm to 23.7±8.4 mm, Δ=8.5±6.9 mm) was greater than group B (31.0±13.9 mm to 30.1±15.5 mm, Δ=0.9±2.9 mm, p=0.003). Pre-operative magnetic resonance imaging indicated that group A patients have a higher grade of disc degeneration adjacent to fractured vertebrae compared to group B (modified Pfirrmann grade, group A : 6.10±0.99, group B : 4.08±0.90, p=0.004). Binary logistic regression analysis indicated that decrement of disc height was the only associated risk factor for future revision surgery (odds ratio, 1.891; 95% confidence interval, 1.121-3.190; p=0.017). Conclusion : Proximal junctional vertebral compression fractures with greater early-stage decrement of adjacent disc height were associated with increased risk of future neurological deterioration and necessity of revision. The condition of adjacent disc degeneration should be considered regarding severity and revision rate of proximal junctional kyphosis/proximal junction failures.

• Korean Journal of Radiology
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• 제25권2호
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• pp.166-178
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• 2024

Objective: This study aimed to determine the predictive performance of non-contrast CT (NCCT) signs for hemorrhagic growth after intracerebral hemorrhage (ICH) when stratified by onset-to-imaging time (OIT). Materials and Methods: 1488 supratentorial ICH within 6 h of onset were consecutively recruited from six centers between January 2018 and August 2022. NCCT signs were classified according to density (hypodensities, swirl sign, black hole sign, blend sign, fluid level, and heterogeneous density) and shape (island sign, satellite sign, and irregular shape) features. Multivariable logistic regression was used to evaluate the association between NCCT signs and three types of hemorrhagic growth: hematoma expansion (HE), intraventricular hemorrhage growth (IVHG), and revised HE (RHE). The performance of the NCCT signs was evaluated using the positive predictive value (PPV) stratified by OIT. Results: Multivariable analysis showed that hypodensities were an independent predictor of HE (adjusted odds ratio [95% confidence interval] of 7.99 [4.87-13.40]), IVHG (3.64 [2.15-6.24]), and RHE (7.90 [4.93-12.90]). Similarly, OIT (for a 1-h increase) was an independent inverse predictor of HE (0.59 [0.52-0.66]), IVHG (0.72 [0.64-0.81]), and RHE (0.61 [0.54-0.67]). Blend and island signs were independently associated with HE and RHE (10.60 [7.36-15.30] and 10.10 [7.10-14.60], respectively, for the blend sign and 2.75 [1.64-4.67] and 2.62 [1.60-4.30], respectively, for the island sign). Hypodensities demonstrated low PPVs of 0.41 (110/269) or lower for IVHG when stratified by OIT. When OIT was ≤ 2 h, the PPVs of hypodensities, blend sign, and island sign for RHE were 0.80 (215/269), 0.90 (142/157), and 0.83 (103/124), respectively. Conclusion: Hypodensities, blend sign, and island sign were the best NCCT predictors of RHE when OIT was ≤ 2 h. NCCT signs may assist in earlier recognition of the risk of hemorrhagic growth and guide early intervention to prevent neurological deterioration resulting from hemorrhagic growth.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.38-44
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• 2007

목 적 : 멘케스병은 X-연관성 열성으로 유전되는 질환으로 copper-transporting P-type ATPase에 부호화된 ATP7A 유전자의 돌연변이에 의해 발생한다. 임상 증상으로 진행성 신경계 퇴행, 정신 지체, 저색소 피부색, 혈관계 합병증을 나타내며, 조기 진단과 치료가 예후에 중요한다. 저자들은 ATP7A 유전자 분석을 통한 새로운 돌연변이와 산전 진단의 사례를 보고하는 바이다. 방 법 : 영아기에 꾸불꾸불한 머리카락, 진행성 신경계 퇴행, 근긴장저하를 보인 5명의 멘케스병 환자를 대상으로 하였다. 혈청 구리와 세룰로플라즈민 농도는 모든 환자에서 감소되어 있었으며, 뇌 핵자기공명영상 소견상 꾸불꾸불한 뇌혈관의 관찰되었다. 배양된 피부 섬유아세포에서 추출한 cDNA 또는 말초 혈액 백혈구에서 분리한 genomic DNA로 유전자 분석을 시행하였다. 산전 진단은 융모막 채취 또는 양수 검사를 통하여 2명의 태아에서 시행하였다. 결 과 : 4명의 환자에서 4가지 새로운 돌연변이가 발견되었다(c.3511+1G>A (p.E1099_N1171delinsMfsX18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), c.3352 G>A (p.G1118S)). 나머지 1명의 환자에서 발견된 돌연변이는 이미 보고된 돌연변이이다(c.1933 C>T (p.V1268_R1335del)). 산전 진단에서 1명은 정상이었으며 다른 1명은 여자 보인자로 진단되었다. 결 론 : ATP7A 유전자 분석에서 4가지 새로운 돌연변이가 발견되었다. 유전자 분석과 이를 이용한 산전 진단은 조기진단 또는 치료적 유산을 결정하는데 결정적다. 본 연구에서 유전자 분석을 시행한 결과 대부분 해독틀(frameshift) 돌연변이였으며 산전 진단은 모두 성공적으로 수행되었다.